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A mutation, which may arise during replication and/or recombination, is a permanent change in the nucleotide sequence of DNA. Damaged DNA can be mutated either by substitution, deletion or insertion of base pairs. Mutations, for the most part, are harmless except when they lead to cell death or tumor formation. They can be NEUTRAL like silent mutations, HARMFUL lor BENEFICIAL CAUSES OF MUTATIONS:
its daughter cell. ( Some tumoral forms such as skin or lung cancer are caused by this type of mutation) BOTH MUTATIONS INFLUENCE THE PROCESS OF PROTEIN SYNTHESIS TYPES OF MUTUATIONS: 1) GENE/POINT MUTATIONS
Substitution A SUBSTITUTION MUTATION occurs when one base pair is substituted for another. For example, this would occur when one nucleotide containing cytosine is accidentally substituted for one containing guanine. There are three types of substitution mutations: Nonsense Missense Silent A NONSENSE MUTATION occurs when one nucleotide is substituted and this leads to the formation of a stop codon instead of a codon that codes for an amino acid. A stop codon a certain sequence of bases (TAG, TAA, or TGA in DNA, and UAG, UAA, or UGA in RNA) that stops the production of the amino acid chain.
This completely changes the amino acids that would be produced, which in turn changes the structure and function of the resulting protein and can render it useless. Similarly, if one base was deleted, the sequence would also shift. 2) CHROMOSOMAL MUTUATIONS Chromosome structure mutations are alterations that affect whole chromosomes and whole genes rather than just individual nucleotides. These mutations result from errors in cell division that cause a section of a chromosome to break off, be duplicated or move onto another chromosome. deletion is where a section of a chromosome is removed. translocation is where a section of a chromosome is added to another chromosome that is not its homologous partner. inversion is where a section of a chromosome is reversed. duplication occurs when a section of a chromosome is added from its homologous partner. Chromosome mutations are often lethal as the chromosome structure is altered. EXAMPLE: DOWN SYNDROME